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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
ABL1 - ABL Proto-oncogene 1, Non-receptor Tyrosine Kinase
Alias:
ABL
JTK7
p150
c-ABL
v-abl
CHDSKM
c-ABL1
BCR-ABL
bcr/abl
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是一个原癌基因,编码一种参与多种细胞过程的蛋白质酪氨酸激酶,包括细胞分裂、粘附、分化和对应激的反应。该蛋白质的活性受到其SH3结构域的负调控,删除编码该结构域的区域将导致癌基因。这种广泛表达的蛋白质具有DNA结合活性,该活性受到CDC2介导的磷酸化的调节,暗示其具有细胞周期功能。已发现这个基因在各种白血病中与各种易位伙伴基因融合,最著名的是t(9;22)易位,导致与断裂点簇区基因(BCR; MIM:151410)的5'端融合。这个基因的替代剪接产生两种转录变异体,它们包含不同的第一个外显子,这些外显子剪接到剩余的共同外显子上。[RefSeq提供,2014年8月]
Related ID:
NCBI:25
ENSEMBL:ENSG00000097007
HGNC:76
UNIPROT:P00519
OMIM:189980
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
25
2
11
174633 bp
122.87
386
9
12
76
ABL1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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